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created at |
2024-09-23 16:23:50 UTC |
updated at |
2024-09-23 18:22:39 UTC |
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Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
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20,514 entries
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There is 0 pattern entry.
ADTKD-HNF1B
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Orphanet_93111 |
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CMTDIE
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Orphanet_93114 |
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HNF1B-MODY
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Orphanet_93111 |
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HVDRR
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Orphanet_93160 |
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MODY5
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Orphanet_93111 |
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TPHA
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Orphanet_93164 |
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Isolated acheiropodia
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Orphanet_931 |
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Isolated acheiropody
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Orphanet_931 |
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Renal hypoplasia
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Orphanet_93101 |
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Kidney dysplasia
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Orphanet_93108 |
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Renal dysplasia
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Orphanet_93108 |
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Congenital megacalycosis
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Orphanet_93109 |
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HNF1B-related nephropathy
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Orphanet_93111 |
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RCAD syndrome
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Orphanet_93111 |
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Pauci-immune glomerulonephritis
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Orphanet_93126 |
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